Canonical Allele Identifier: CA449662132
Gene: PRRC2A HGNC NCBI
SNORA38 HGNC NCBI

Linked Data

dbSNP Id: rs1275015413
gnomAD v2: 6-31590903-G-A
gnomAD v4: 6-31623126-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31623126G>A , CM000668.2:g.31623126G>A GRCh38
NC_000006.11:g.31590903G>A , CM000668.1:g.31590903G>A GRCh37
NC_000006.10:g.31698882G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000376033.3:c.112+225G>A (PRRC2A) MANE Select ENSP00000365201.2:n.112+225G>A
ENST00000376007.8:c.112+225G>A (PRRC2A) ENSP00000365175.4:n.112+225G>A
ENST00000376033.2:c.112+225G>A (PRRC2A) ENSP00000365201.2:n.112+225G>A
ENST00000469577.5:n.136-1135G>A (PRRC2A)
NM_004638.3:c.112+225G>A (PRRC2A) NP_004629.3:n.112+225G>A
NM_080686.2:c.112+225G>A (PRRC2A) NP_542417.2:n.112+225G>A
NR_002971.1:n.48G>A (SNORA38)
XM_011514890.1:c.112+225G>A (PRRC2A) XP_011513192.1:n.112+225G>A
XM_017011274.1:c.112+225G>A (PRRC2A) XP_016866763.1:n.112+225G>A
NM_004638.4:c.112+225G>A (PRRC2A) MANE Select NP_004629.3:n.112+225G>A
NM_080686.3:c.112+225G>A (PRRC2A) NP_542417.2:n.112+225G>A